Barbara Zoll

The Skeletal Muscle Chloride Channel in Dominant and Recessive Human Myotonia

Manuela C. Koch, Klaus Steinmeyer, C Lorenz et al. · Science · 1992 · 712 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen, Vincent Gâtinois, Vera Riehmer et al. · Human Mutation · 2016 · 192 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber, Gabriele Gillessen‐Kaesbach, Sven Fischer et al. · European Journal of Human Genetics · 2004 · 181 citations

Life Sciences, Genetics, Molecular Genetics +14

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype

Iris Bartels, Heike Starke, Loukas Argyriou et al. · European Journal of Medical Genetics · 2006 · 101 citations

Life Sciences, Genetics, Molecular Genetics +15